Research Interests
Genetic eye disease is a leading cause of blindness among infants, children and adults.
Dr Mariya Moosajee is focused on:
Understanding the molecular basis of inherited eye disorders, in particular the genetics of retinal dystrophies and ocular maldevelopment such a microphthalmia, anophthalmia, ocular coloboma and anterior segment dysgenesis.
Establishing the genotype-phenotype relationship through clinical deep phenotyping studies to identify optimal therapeutic windows and outcome measures for clinical trials, patient risk stratification as significant rates of systemic disease association to ensure the appropriate multidisciplinary clinical pathways for best patient care.
Development of novel therapeutic approaches for genetic eye disease including nonsense suppression therapy (ataluren, PTC-derivatives, NB compounds and amlexanox) anti-apoptotic agents, and gene therapy using non-viral gene delivery systems including scaffold matrix attachment region (S/MAR) vectors.
Dr Moosajee has won over 30 international and national prizes and awards for her research and was the first ophthalmologist in the UK to receive the prestigious Wellcome Trust Clinical Research Development Fellowship, for which she was also awarded the Beit Prize for the best fellowship by the Wellcome Trust.
For her scientific publications visit: Pubmed.
Developing the use of small molecule drugs to treat nonsense-mediated genetic eye disease
Proof-of-concept studies testing the safety and efficacy of novel small molecule drugs, such as ataluren and designer aminoglycosides, on (i) in vivo models of genetic eye disease including ocular coloboma, microphthalmia, choroideremia, Lebers congenital amaurosis and retinitis pigmentosa; and (ii) in vitro patient cells including skin fibroblasts and induced pluripotent stem cell (iPSC) derived retinal pigment epithelium, photoreceptors and optic cups with the same ocular disease.
A molecular therapy that safely targets nonsense mutations has the potential to treat sight-threatening genetic eye disorders in a disease- and gene-independent approach. This will have far-reaching effects across Ophthalmology as most genetic eye diseases have no treatment available.
My Articles
Investigating the genetics of congenital eye disorders and inherited retinal disease
Using the latest next generation sequencing technology, including whole exome and whole genome sequencing with extensive bioinformatics, we are identifying the genetic causes of eye disease. Once the genetic cause is established, we use various models such as the induced pluripotent stem cell (iPSC) derived retinal pigment epithelium, photoreceptors and optic cups, to dissect the molecular basis and understand the disease mechanisms in order to develop new therapeutic approaches for treating these conditions. Please watch the video below to see how we can grow an early eye in a petri dish from a patient’s skin cells.
Seeing with your skin from NIHR Moorfields BRC on Vimeo.
My Articles
Natural history studies to understand disease progression, identify the optimal therapeutic window and determine reliable outcome measures for clinical trials
At Moorfields Eye Hospital we have a state-of-the-art Clinical Research facility with high-tech imaging equipment that enables us to study the detailed clinical features of eye disease and monitor the progression. We are making advances in our understanding of the relationship between the genetic diagnosis and the clinical presentation, and discovering biomarkers using whole metabolome testing. This allows us to screen all the metabolites in an individual’s blood so we can use them as markers for response to drug treatments in clinical trials.
My Articles
Dr Mariya Moosajee’s Lab
Current
Dr Maria Toms, Research Associate
Dr Nick Owens, Research Associate
Dr Rodrigo Young, Research Associate
Dr Ahmed Hagag, Clinical Research Fellow
Dr Andreas Mitsios, Clinical Research Fellow
Ms Dhani Tracey-White, Research Assistant
Ms Constance Maurer, Research Assistant
PhD Students
Maria Toms, completed 2018
Phillippa Harding
Jonathan Eintracht
Hajrah Sarkar
Lyes Toualbi
Alumni
Dr Rose Richardson, Research Associate
Dr Matthew Smart, Research Associate
Dr Alessandro Abbouda, Clinical Research Fellow
Prizes achieved from members of Dr Mariya Moosajee’s Research Group
| 2018 | Prize for Best Presentation at the UCL FLMS postdoctoral research and careers symposium Awarded to Rose Richardson, Research Associate |
| 2018 | International Usher syndrome conference 2018 Travel Award for an excellent paper Awarded to Maria Toms, Research Associate |
| 2017 | The Societas Ophthalmologica Europæa (SOE) Prize Royal College of Ophthalmologists Annual Congress, Liverpool Awarded to Adam Ali, Medical Student in the Moosajee lab |
| 2016 | The UK Eye Genetics Group Best Poster Prize UK Eye Genetic Group Annual Conference 2016 Awarded to Dr Alessandro Abbouda, Clinical Research Fellow |
Telephone: +44 (020) 7556 2260
Email: m.moosajee@ucl.ac.uk
Laboratory address:
Dr Mariya Moosajee
Development, Ageing and Disease
UCL Institute of Ophthalmology
11-43 Bath Street
London
EC1V 9EL
Website: https://iris.ucl.ac.uk/iris/browse/profile?upi=MMOOS03
